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Items: 1 to 20 of 202

1.

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2005 Dec 1;139A(2):106-13.

PMID:
16284940
2.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
3.

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

Eur J Hum Genet. 2007 Sep;15(9):943-9. Epub 2007 May 23.

4.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

5.

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

Clin Genet. 2004 Jun;65(6):477-82.

PMID:
15151506
6.

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.

Carelle-Calmels N, Girard-Lemaire F, Guérin E, Bieth E, Rudolf G, Biancalana V, Pecheur H, Demil H, Schneider T, de Saint-Martin A, Caron O, Legrain M, Gaston V, Flori E.

Eur J Med Genet. 2008 Nov-Dec;51(6):547-57. doi: 10.1016/j.ejmg.2008.07.003. Epub 2008 Jul 22.

PMID:
18692163
7.
8.

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.

Eur J Hum Genet. 2007 Apr;15(4):432-40. Epub 2007 Jan 31.

9.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693
11.

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.

Hum Mol Genet. 1999 Jun;8(6):1025-37.

PMID:
10332034
12.

Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.

Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N.

Am J Med Genet. 1994 Mar 1;50(1):64-7.

PMID:
7909198
13.

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Kwasnicka-Crawford DA, Roberts W, Scherer SW.

J Autism Dev Disord. 2007 Apr;37(4):694-702.

PMID:
17006779
14.

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Pujana MA, Nadal M, Guitart M, Armengol L, Gratacòs M, Estivill X.

Eur J Hum Genet. 2002 Jan;10(1):26-35.

15.

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA.

J Med Genet. 1998 Feb;35(2):130-6.

16.

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.

Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH.

Hum Genet. 1997 Jan;99(1):11-7.

PMID:
9003485
17.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.

Eur J Hum Genet. 2006 Jul;14(7):831-7. Epub 2006 Apr 12.

18.

Sequence-based, in situ detection of chromosomal abnormalities at high resolution.

Knoll JH, Rogan PK.

Am J Med Genet A. 2003 Sep 1;121A(3):245-57.

PMID:
12923866
19.

Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers.

Molina O, Blanco J, Vidal F.

Mol Hum Reprod. 2010 May;16(5):320-8. doi: 10.1093/molehr/gaq005. Epub 2010 Jan 18.

PMID:
20083560
20.

Molecular screening for proximal 15q abnormalities in a mentally retarded population.

Jacobsen J, King BH, Leventhal BL, Christian SL, Ledbetter DH, Cook EH Jr.

J Med Genet. 1998 Jul;35(7):534-8.

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